REP1 Gene Replacement Therapy for Choroideremia

University of Oxford30 enrolled

Overview

The assessment of the efficacy (with respect to preservation of visual function and retinal structure) and safety of a single subretinal injection of AAV2.REP1 in participants with a confirmed diagnosis of choroideremia, as evaluated by various functional and anatomical outcomes measured over a number of time points up to 24 months post-treatment.

Study Type

INTERVENTIONAL

Allocation

RANDOMIZED

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Choroideremia

Interventions

AAV-mediated REP1 gene replacementGENETIC

AAV vector carrying human REP1 gene is delivered into the treated eye by subretinal injection

Eligibility

Sex: MALEMin age: 18 YearsMax age: 90 Years

Medical Language ↔ Plain English

Inclusion Criteria: 1. Candidate is willing and able to give informed consent for participation in the study. 2. Male aged 18 years or above. 3. Genetic or molecular confirmed diagnosis of choroideremia (REP1 protein deficiency). 4. Active disease visible clinically within the macula region. 5. Best corrected visual acuity better than or equal to 6/60 (20/200; Decimal 0.1; LogMAR 1.0) in the study eye. Exclusion Criteria: 1. Any female, or a male aged below 18 years. 2. An additional cause for sight loss (e.g. amblyopia) in the eye to be treated. 3. Any other significant ocular and non-ocular disease or disorder which, in the opinion of the investigator, may put the participants at risk because of participation in the study. 4. Inability to take systemic prednisolone for a period of 45 days. 5. Unwillingness to use barrier contraception methods for a period of three months following gene therapy surgery. 6. Participation in another research study involving an investigational product in the preceding 12 weeks.

Locations (2)

Moorfields Eye Hospital NHS Foundation Trust

London, United Kingdom

Oxford University Hospitals NHS Foundation Trust

Oxford, United Kingdom

Outcomes

Primary Outcomes

Change from baseline in best corrected visual acuity in the treated eye

Time frame: 2 years

Secondary Outcomes

Change from baseline in the central visual field in the treated eye as determined by microperimetry

Time frame: 2 years

Change from baseline in the area of surviving retinal pigment epithelium in the treated eye as measured by fundus autofluorescence, compared to the untreated fellow eye (control eye) after randomisation of treatment to one eye or the other

Time frame: 2 years

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.